ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys)

gnomAD frequency: 0.00001  dbSNP: rs764645698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651344 SCV000773195 uncertain significance Amyotrophic lateral sclerosis type 21 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 721 of the MATR3 protein (p.Glu721Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs764645698, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000651344 SCV003808299 uncertain significance Amyotrophic lateral sclerosis type 21 2019-06-24 criteria provided, single submitter clinical testing

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